通过CRISPR/Cas9技术,第126位的甘氨酸密码子(GGC)被替换为谷氨酸密码子(GAA),产生了p.Gly126Glu的突变。这产生了一个无激酶活性的肽,无法对靶脂质进行磷酸化。(来源:J:282052)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Endonuclease-mediated
核苷酸替换
--
1
4
2

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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